chr4-13587758-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_148894.3(BOD1L1):c.8294A>G(p.Glu2765Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,403,102 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_148894.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BOD1L1 | NM_148894.3 | c.8294A>G | p.Glu2765Gly | missense_variant | 16/26 | ENST00000040738.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BOD1L1 | ENST00000040738.10 | c.8294A>G | p.Glu2765Gly | missense_variant | 16/26 | 1 | NM_148894.3 | P2 | |
BOD1L1 | ENST00000507943.2 | c.8294A>G | p.Glu2765Gly | missense_variant | 16/27 | 3 | A2 | ||
BOD1L1 | ENST00000511119.1 | n.1744A>G | non_coding_transcript_exon_variant | 4/7 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1403102Hom.: 0 Cov.: 28 AF XY: 0.00000144 AC XY: 1AN XY: 692894
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 26, 2022 | The c.8294A>G (p.E2765G) alteration is located in exon 16 (coding exon 16) of the BOD1L1 gene. This alteration results from a A to G substitution at nucleotide position 8294, causing the glutamic acid (E) at amino acid position 2765 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at